Canonical Allele Identifier: CA351538021

Gene: XPC

Linked Data

• dbSNP Id: rs772673679
• MyVariant Identifiers: chr3:g.14190319C>G (hg19) ; chr3:g.14148819C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.14148819C>G , CM000665.2:g.14148819C>G	GRCh38
NC_000003.11:g.14190319C>G , CM000665.1:g.14190319C>G	GRCh37
NC_000003.10:g.14165320C>G	NCBI36
NG_011763.1:g.34854G>C , LRG_472:g.34854G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000285021.12:c.2245G>C MANE Select	ENSP00000285021.8:p.Gly749Arg
ENST00000285021.11:c.2245G>C	ENSP00000285021.7:p.Gly749Arg
ENST00000427795.2:n.110G>C
ENST00000476581.6:c.*1698G>C	ENSP00000424548.1:n.*1698G>C
NM_004628.4:c.2245G>C , LRG_472t1:c.2245G>C	NP_004619.3:p.Gly749Arg
NR_027299.1:n.2225G>C
XM_011534092.1:c.2245G>C	XP_011532394.1:p.Gly749Arg
NM_001354726.1:c.1666G>C	NP_001341655.1:p.Gly556Arg
NM_001354727.1:c.2239G>C	NP_001341656.1:p.Gly747Arg
NM_001354729.1:c.2227G>C	NP_001341658.1:p.Gly743Arg
NM_001354730.1:c.1999G>C	NP_001341659.1:p.Gly667Arg
NR_148950.1:n.2188G>C
NR_148951.1:n.2064G>C
XR_001740256.2:n.2278G>C
XR_002959580.1:n.2278G>C
XR_002959581.1:n.3895G>C
NM_001354727.2:c.2239G>C	NP_001341656.1:p.Gly747Arg
NM_004628.5:c.2245G>C MANE Select	NP_004619.3:p.Gly749Arg
NR_148950.2:n.2117G>C
NR_148951.2:n.1993G>C
NM_001354726.2:c.1666G>C	NP_001341655.1:p.Gly556Arg
NM_001354729.2:c.2227G>C	NP_001341658.1:p.Gly743Arg
NM_001354730.2:c.1999G>C	NP_001341659.1:p.Gly667Arg